Variant report

Variant	rs531553682
Chromosome Location	chr5:75668655-75668656
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr5:75668414-75668966	K562	blood:	n/a	n/a
2	ELF1	chr5:75667867-75668731	K562	blood:	n/a	n/a
3	TBP	chr5:75668510-75668715	Hela-S3	cervix:	n/a	n/a
4	EP300	chr5:75668417-75668750	SK-N-SH_RA	brain:	n/a	chr5:75668610-75668619 chr5:75668563-75668572 chr5:75668611-75668620
5	JUND	chr5:75668196-75668828	HepG2	liver:	n/a	chr5:75668610-75668619 chr5:75668609-75668621 chr5:75668611-75668620 chr5:75668609-75668620 chr5:75668565-75668572 chr5:75668563-75668573 chr5:75668611-75668619 chr5:75668562-75668574 chr5:75668564-75668572 chr5:75668611-75668618 chr5:75668564-75668572 chr5:75668610-75668620 chr5:75668471-75668485 chr5:75668563-75668573
6	HDAC2	chr5:75668385-75668826	K562	blood:	n/a	n/a
7	GATA2	chr5:75668348-75668840	K562	blood:	n/a	chr5:75668565-75668574
8	MAX	chr5:75667900-75668888	K562	blood:	n/a	chr5:75668611-75668620 chr5:75668610-75668619
9	RFX5	chr5:75668467-75668759	HepG2	liver:	n/a	n/a
10	RFX5	chr5:75668465-75668729	Hela-S3	cervix:	n/a	n/a
11	MAZ	chr5:75668029-75669003	K562	blood:	n/a	chr5:75668611-75668620 chr5:75668610-75668619 chr5:75668932-75668941
12	BACH1	chr5:75667878-75669011	K562	blood:	n/a	chr5:75668608-75668622
13	JUND	chr5:75668083-75669058	K562	blood:	n/a	chr5:75668610-75668619 chr5:75668609-75668621 chr5:75668611-75668620 chr5:75668609-75668620 chr5:75668565-75668572 chr5:75668563-75668573 chr5:75668611-75668619 chr5:75668562-75668574 chr5:75668564-75668572 chr5:75668611-75668618 chr5:75668564-75668572 chr5:75668610-75668620 chr5:75668471-75668485 chr5:75668563-75668573
14	SMC3	chr5:75668418-75668797	Hela-S3	cervix:	n/a	chr5:75668468-75668475
15	TAL1	chr5:75668266-75668860	K562	blood:	n/a	n/a
16	RAD21	chr5:75668508-75668712	Hela-S3	cervix:	n/a	n/a
17	EP300	chr5:75668440-75668781	K562	blood:	n/a	chr5:75668610-75668619 chr5:75668765-75668778 chr5:75668563-75668572 chr5:75668611-75668620
18	UBTF	chr5:75668291-75668870	K562	blood:	n/a	n/a
19	SRF	chr5:75668423-75668840	K562	blood:	n/a	n/a
20	FOS	chr5:75668392-75668816	Hela-S3	cervix:	n/a	chr5:75668610-75668619 chr5:75668609-75668621 chr5:75668611-75668620 chr5:75668565-75668572 chr5:75668563-75668573 chr5:75668611-75668619 chr5:75668609-75668620 chr5:75668562-75668574 chr5:75668564-75668572 chr5:75668611-75668618 chr5:75668562-75668573 chr5:75668564-75668572 chr5:75668610-75668620 chr5:75668471-75668485 chr5:75668563-75668573
21	BHLHE40	chr5:75668018-75669098	K562	blood:	n/a	n/a
22	PML	chr5:75668344-75668887	K562	blood:	n/a	chr5:75668612-75668621 chr5:75668609-75668618
23	JUND	chr5:75668372-75668746	HepG2	liver:	n/a	chr5:75668610-75668619 chr5:75668609-75668621 chr5:75668611-75668620 chr5:75668609-75668620 chr5:75668565-75668572 chr5:75668563-75668573 chr5:75668611-75668619 chr5:75668562-75668574 chr5:75668564-75668572 chr5:75668611-75668618 chr5:75668564-75668572 chr5:75668610-75668620 chr5:75668471-75668485 chr5:75668563-75668573
24	RCOR1	chr5:75668360-75668733	Hela-S3	cervix:	n/a	n/a
25	NFE2	chr5:75668425-75668839	K562	blood:	n/a	chr5:75668611-75668621 chr5:75668610-75668625 chr5:75668610-75668620
26	JUND	chr5:75668304-75668885	A549	lung:	n/a	chr5:75668610-75668619 chr5:75668609-75668621 chr5:75668611-75668620 chr5:75668609-75668620 chr5:75668565-75668572 chr5:75668563-75668573 chr5:75668611-75668619 chr5:75668562-75668574 chr5:75668564-75668572 chr5:75668611-75668618 chr5:75668564-75668572 chr5:75668610-75668620 chr5:75668471-75668485 chr5:75668563-75668573
27	CEBPD	chr5:75668342-75668901	K562	blood:	n/a	n/a
28	JUND	chr5:75667737-75669109	HCT-116	colon:	n/a	chr5:75668610-75668619 chr5:75668609-75668621 chr5:75668611-75668620 chr5:75668609-75668620 chr5:75667860-75667867 chr5:75668565-75668572 chr5:75667860-75667868 chr5:75668563-75668573 chr5:75668611-75668619 chr5:75668562-75668574 chr5:75668564-75668572 chr5:75667860-75667868 chr5:75668611-75668618 chr5:75668564-75668572 chr5:75668610-75668620 chr5:75668471-75668485 chr5:75668563-75668573
29	FOSL1	chr5:75667642-75669054	HCT-116	colon:	n/a	chr5:75668610-75668619 chr5:75668609-75668621 chr5:75668611-75668620 chr5:75667860-75667867 chr5:75668565-75668572 chr5:75667860-75667868 chr5:75668563-75668573 chr5:75668611-75668619 chr5:75668562-75668574 chr5:75668564-75668572 chr5:75668609-75668620 chr5:75667860-75667868 chr5:75668611-75668618 chr5:75668564-75668572 chr5:75668610-75668620 chr5:75668471-75668485 chr5:75668563-75668573
30	GATA3	chr5:75668420-75668832	MCF-7	breast:	n/a	chr5:75668565-75668574
31	TBL1XR1	chr5:75668351-75668881	K562	blood:	n/a	n/a
32	JUND	chr5:75668392-75668823	Hela-S3	cervix:	n/a	chr5:75668610-75668619 chr5:75668609-75668621 chr5:75668611-75668620 chr5:75668609-75668620 chr5:75668565-75668572 chr5:75668563-75668573 chr5:75668611-75668619 chr5:75668562-75668574 chr5:75668564-75668572 chr5:75668611-75668618 chr5:75668564-75668572 chr5:75668610-75668620 chr5:75668471-75668485 chr5:75668563-75668573
33	GATA3	chr5:75668339-75669013	SK-N-SH	brain:	n/a	chr5:75668565-75668574
34	EP300	chr5:75668539-75668659	GM12878	blood:	n/a	chr5:75668610-75668619 chr5:75668563-75668572 chr5:75668611-75668620
35	NR2F2	chr5:75668350-75668790	K562	blood:	n/a	n/a
36	GTF2F1	chr5:75668499-75668929	K562	blood:	n/a	n/a
37	FOSL1	chr5:75668360-75668886	K562	blood:	n/a	chr5:75668610-75668619 chr5:75668609-75668621 chr5:75668611-75668620 chr5:75668565-75668572 chr5:75668563-75668573 chr5:75668611-75668619 chr5:75668562-75668574 chr5:75668564-75668572 chr5:75668609-75668620 chr5:75668611-75668618 chr5:75668564-75668572 chr5:75668610-75668620 chr5:75668471-75668485 chr5:75668563-75668573
38	CUX1	chr5:75668410-75669046	K562	blood:	n/a	n/a
39	MYC	chr5:75667938-75668824	K562	blood:	n/a	chr5:75668611-75668620 chr5:75668610-75668619
40	MAFF	chr5:75667890-75669010	K562	blood:	n/a	chr5:75668609-75668627
41	FOSL1	chr5:75668252-75669034	HCT-116	colon:	n/a	chr5:75668610-75668619 chr5:75668609-75668621 chr5:75668611-75668620 chr5:75668565-75668572 chr5:75668563-75668573 chr5:75668611-75668619 chr5:75668562-75668574 chr5:75668564-75668572 chr5:75668609-75668620 chr5:75668611-75668618 chr5:75668564-75668572 chr5:75668610-75668620 chr5:75668471-75668485 chr5:75668563-75668573
42	POLR2A	chr5:75667879-75669103	K562	blood:	n/a	n/a
43	JUND	chr5:75668233-75668997	HCT-116	colon:	n/a	chr5:75668610-75668619 chr5:75668609-75668621 chr5:75668611-75668620 chr5:75668609-75668620 chr5:75668565-75668572 chr5:75668563-75668573 chr5:75668611-75668619 chr5:75668562-75668574 chr5:75668564-75668572 chr5:75668611-75668618 chr5:75668564-75668572 chr5:75668610-75668620 chr5:75668471-75668485 chr5:75668563-75668573
44	ATF1	chr5:75668382-75668766	K562	blood:	n/a	n/a
45	EP300	chr5:75668350-75668729	SK-N-SH_RA	brain:	n/a	chr5:75668610-75668619 chr5:75668563-75668572 chr5:75668611-75668620
46	POLR2A	chr5:75668385-75668824	SK-N-SH	brain:	n/a	n/a
47	GATA2	chr5:75668216-75668815	K562	blood:	n/a	chr5:75668565-75668574
48	JUN	chr5:75668407-75668797	Hela-S3	cervix:	n/a	chr5:75668610-75668619 chr5:75668609-75668621 chr5:75668611-75668620 chr5:75668565-75668572 chr5:75668563-75668573 chr5:75668611-75668619 chr5:75668562-75668574 chr5:75668564-75668572 chr5:75668611-75668618 chr5:75668564-75668572 chr5:75668610-75668620 chr5:75668471-75668485 chr5:75668563-75668573
49	STAT3	chr5:75668426-75668714	MCF10A-Er-Src	breast:	n/a	chr5:75668610-75668619 chr5:75668611-75668620
50	MAX	chr5:75668430-75668807	K562	blood:	n/a	chr5:75668611-75668620 chr5:75668610-75668619

No.	Distal block	Cell Line	Cell type
1	chr5:75630696..75632382-chr5:75666521..75668676,2	K562	blood:
2	chr5:75668230..75670019-chr5:75671615..75674101,2	K562	blood:
3	chr5:75658187..75661153-chr5:75667943..75670127,2	K562	blood:
4	chr5:75663384..75665585-chr5:75666962..75670034,4	K562	blood:
5	chr5:75661896..75664884-chr5:75666923..75670034,3	K562	blood:
6	chr5:75667400..75670922-chr5:75672523..75674364,4	K562	blood:

Variant related genes	Relation type
ENSG00000251235	TF binding region
ENSG00000251235	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv870415	chr5:75526088-75738412	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv328635	chr5:75667780-75669370	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:50 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:75667200-75668800	Enhancers	Pancreas	Pancrea
2	chr5:75667200-75669000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr5:75667200-75669000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr5:75667200-75669000	Enhancers	Placenta	Placenta
5	chr5:75667400-75669000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr5:75667600-75669000	Enhancers	HMEC	breast
7	chr5:75667800-75668800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
8	chr5:75667800-75668800	Flanking Active TSS	HepG2	liver
9	chr5:75667800-75668800	Enhancers	Monocytes-CD14+_RO01746	blood
10	chr5:75667800-75669000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr5:75667800-75669000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr5:75667800-75669000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr5:75667800-75669000	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr5:75667800-75669000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr5:75667800-75669000	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr5:75667800-75669000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr5:75667800-75669000	Enhancers	Esophagus	oesophagus
18	chr5:75667800-75669000	Enhancers	Fetal Intestine Small	intestine
19	chr5:75667800-75669000	Flanking Active TSS	K562	blood
20	chr5:75667800-75669000	Enhancers	NH-A	brain
21	chr5:75667800-75669200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr5:75667800-75669200	Enhancers	NHEK	skin
23	chr5:75667800-75669800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr5:75668000-75668800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr5:75668000-75668800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr5:75668000-75668800	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr5:75668000-75668800	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr5:75668000-75668800	Enhancers	Primary monocytes fromperipheralblood	blood
29	chr5:75668000-75668800	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr5:75668000-75668800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr5:75668000-75668800	Enhancers	Duodenum Mucosa	Duodenum
32	chr5:75668000-75668800	Enhancers	Fetal Thymus	thymus
33	chr5:75668000-75668800	Enhancers	NHLF	lung
34	chr5:75668000-75669000	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr5:75668000-75669000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr5:75668000-75669000	Enhancers	Placenta Amnion	Placenta Amnion
37	chr5:75668000-75669000	Enhancers	Stomach Mucosa	stomach
38	chr5:75668000-75669000	Enhancers	Hela-S3	cervix
39	chr5:75668000-75669000	Enhancers	NHDF-Ad	bronchial
40	chr5:75668200-75668800	Enhancers	Spleen	Spleen
41	chr5:75668200-75668800	Enhancers	HSMM	muscle
42	chr5:75668200-75669000	Enhancers	Muscle Satellite Cultured Cells	--
43	chr5:75668200-75669000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr5:75668200-75669000	Flanking Active TSS	A549	lung
45	chr5:75668400-75668800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr5:75668400-75668800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr5:75668400-75668800	Enhancers	Osteobl	bone
48	chr5:75668600-75669000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr5:75668600-75670800	Weak transcription	Primary hematopoietic stem cells	blood
50	chr5:75668600-75676600	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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